L5V (p.Leu5Val) variant of APP (Amyloid-beta precursor protein)
L5V (p.Leu5Val) in APP (Amyloid-beta precursor protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Alzheimer disease; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
L5V (p.Leu5Val) variant details
- p.Leu5Val
- rs1446208112
- ClinGen CA410167270
- ClinVar RCV003288229
- ClinVar RCV005102651
- Uncertain significance
- Alzheimer disease; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.13
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Uncertain significance (Alzheimer disease; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Alzheimer Disease Overview. (PMID 20301340)
- Cited in: EFNS guidelines for the diagnosis and management of Alzheimer's disease. (PMID 20831773)